Variant report

Variant	rs1543621
Chromosome Location	chr6:73335219-73335220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73331830..73337292-chr6:73338860..73341706,8	K562	blood:
2	chr6:73334481..73336205-chr6:73704822..73706981,2	K562	blood:
3	chr6:73270540..73272055-chr6:73334737..73337247,2	K562	blood:
4	chr6:73334237..73336368-chr6:73349929..73351569,2	K562	blood:

Variant related genes	Relation type
ENSG00000233844	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10805964	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10943042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10943044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10943046	0.96[ASN][1000 genomes]
rs12111265	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12175038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12523691	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12528674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12661650	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13213217	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16882711	0.87[JPT][hapmap]
rs17692121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884090	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1997914	0.91[JPT][hapmap]
rs2207265	0.82[JPT][hapmap]
rs2207266	0.84[JPT][hapmap]
rs2207267	0.85[JPT][hapmap]
rs3734212	0.95[ASN][1000 genomes]
rs3936157	0.92[ASN][1000 genomes]
rs4706511	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4707978	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4707980	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4707981	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4707983	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4707984	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4707985	0.87[JPT][hapmap]
rs6453598	0.87[JPT][hapmap]
rs6453599	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs6453600	0.86[JPT][hapmap]
rs67895524	0.85[ASN][1000 genomes]
rs68141942	0.83[ASN][1000 genomes]
rs6899573	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6900054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6900100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6906977	0.95[JPT][hapmap]
rs6910780	0.86[JPT][hapmap]
rs6913237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6915647	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6917707	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs6922044	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs6922479	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs6922837	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6923028	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs6926943	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs6931363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6937158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6937341	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7451091	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs769133	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs7742742	0.90[ASN][1000 genomes]
rs7749079	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7749264	0.85[ASN][1000 genomes]
rs7760979	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7768117	0.82[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs7771839	0.92[ASN][1000 genomes]
rs7772714	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7772876	0.91[JPT][hapmap]
rs7776102	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs867521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883632	0.88[ASN][1000 genomes]
rs9293896	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs9293897	0.84[ASN][1000 genomes]
rs9293898	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs9293899	0.87[JPT][hapmap]
rs9293902	0.85[JPT][hapmap]
rs9293904	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs9341386	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs9342961	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs9342962	0.82[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs9351938	0.86[JPT][hapmap]
rs9360570	0.98[ASN][1000 genomes]
rs9360571	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9360572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9360573	0.89[ASN][1000 genomes]
rs9360580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9360584	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9360587	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9360588	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9442830	0.82[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs9442831	0.82[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs9442832	0.83[ASN][1000 genomes]
rs9442834	0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9442835	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs9442836	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9442837	0.91[JPT][hapmap]
rs9446734	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9446735	0.83[ASN][1000 genomes]
rs9446739	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9446740	0.95[JPT][hapmap]
rs993314	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333400-73336000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr6:73333400-73336200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:73333800-73335600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:73333800-73335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:73333800-73335800	Enhancers	Primary T cells from cord blood	blood
6	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:73334000-73335400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:73334200-73337200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:73334400-73335800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:73334400-73336000	Enhancers	Dnd41	blood
11	chr6:73334400-73336200	Enhancers	Primary B cells from cord blood	blood
12	chr6:73334400-73336800	Enhancers	K562	blood
13	chr6:73334400-73337200	Weak transcription	NHEK	skin
14	chr6:73334400-73346400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:73334400-73358800	Weak transcription	HSMM	muscle
16	chr6:73334600-73336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:73334600-73356200	Weak transcription	HMEC	breast
18	chr6:73334800-73335800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:73335000-73336000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:73335000-73336400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:73335000-73336800	Flanking Active TSS	GM12878-XiMat	blood
22	chr6:73335200-73339400	Weak transcription	Fetal Brain Female	brain

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